Canonical Allele Identifier: CA3383959

Gene: LOX

Linked Data

• ClinVar Variation Id: 496154
• ClinVar RCV Id: RCV001729644
• dbSNP Id: rs41478244
• ExAC: 5:121412582 C / T
• gnomAD v2: 5-121412582-C-T
• gnomAD v3: 5-122076887-C-T
• gnomAD v4: 5-122076887-C-T
• MyVariant Identifiers: chr5:g.121412582C>T (hg19) ; chr5:g.122076887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122076887C>T , CM000667.2:g.122076887C>T	GRCh38
NC_000005.9:g.121412582C>T , CM000667.1:g.121412582C>T	GRCh37
NC_000005.8:g.121440481C>T	NCBI36
NG_008722.1:g.6474G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000231004.5:c.740+6G>A MANE Select	ENSP00000231004.4:n.740+6G>A
ENST00000639739.2:c.631+468G>A	ENSP00000492324.2:n.631+468G>A
ENST00000231004.4:c.740+6G>A	ENSP00000231004.4:n.740+6G>A
ENST00000503759.5:n.331+6G>A
ENST00000508067.1:c.118+468G>A	ENSP00000427538.1:n.118+468G>A
ENST00000513319.5:n.83+205G>A
NM_001178102.1:c.50+6G>A	NP_001171573.1:n.50+6G>A
NM_001178102.2:c.50+6G>A	NP_001171573.1:n.50+6G>A
NM_001317073.1:c.-152+205G>A	NP_001304002.1:n.-152+205G>A
NM_002317.5:c.740+6G>A	NP_002308.2:n.740+6G>A
NM_002317.6:c.740+6G>A	NP_002308.2:n.740+6G>A
NM_002317.7:c.740+6G>A MANE Select	NP_002308.2:n.740+6G>A